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Learn more about MDF's Advocacy Priorities and our new "Action Center"! In this webinar, MDF' Washington, D.C.

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Presented on January 26, 2024.

Presented on September 9th, 2023.

Araya Puwanant, MD, MS
Wake Forest University School of Medicine, Winston Salem, North Carolina, United States

Presented on September 9th, 2023.

Johanna Hamel, MD
University of Rochester Medical Center, Rochester, New York, United States

Presented on September 9th, 2023.

Moderator: Tom Cooper, MD
Baylor College of Medicine, Houston, Texas, United States 

Presented on September 9th, 2023.

Mário Gomes-Pereira, PhD
Sorbonne Université, Inserm, Association Institut de Myologie, Paris, France

Presented on September 8th, 2023.

Darren Monckton, PhD
University of Glasgow, Scotland, United Kingdom

Presented on September 8th, 2023.

Vinod Mootha, MD
University of Texas Southwestern Medical Center, Dallas, Texas, United States

Presented on September 8th, 2023.

Cécile Martinat, PhD
I-Stem - Institut des cellules Souches pour le Traitement et l'Etude des maladies Monogéniques

Presented on September 8th, 2023.

Diana Varela, Public Affairs Specialist
Social Security Administration

Joyce Lee, Medical Relations Officer
Department on Disability Services

Presented on September 9th, 2023.

John Day, MD, PhD
Stanford

Charles Thornton, MD
University of Rochester Medical Center

Presented on September 9th, 2023.

Irene Sonu, MD
Stanford University

This session explores the ways in which DM2 affects the GI system, treatment and management strategies aimed at alleviating GI issues, and improving quality of life.

Presented on September 9th, 2023.

With an opening statement from Dr. Andy Berglund, MDF Scientific Advisory Committee member, representatives from biotechnology and pharmaceutical companies will provide updates on their drug development efforts in the DM field.

Presented on September 8th, 2023.

With an opening statement from Dr. Andy Berglund, MDF Scientific Advisory Committee member, representatives from biotechnology and pharmaceutical companies will provide updates on their drug development efforts in the DM field.

Presented on September 8th, 2023.

MDF leadership and Board of Directors will share exiting updates about the Foundation, International Myotonic Dystrophy Awareness Day, and discuss progress in the field of myotonic dystrophy.

Presented on September 8th, 2023.

Johanna Hamel, MD
University of Rochester Medical Center

Presented on September 8th, 2023.

John Day, MD, PhD
Stanford University

Presented on September 9th, 2023.

Pradeep P.A. Mammen, MD, FACC, FAHA, FHFSA
University of Kansas Medical Center

Learn from a leading expert about the effect of Myotonic Dystrophy Type 2 (DM2) on the heart.

Presented on September 8th, 2023.

Samar Muslemani, MOT., MSc. PhD
Universite de Sherbrooke

Presented on September 8th, 2023.

Kaalak Reddy, PhD
State University of New York at Albany’s RNA Institute, New York, United States

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Presented on August 4th, 2023.

July 7, 2023: AMO Pharma. Each month biotechnology, pharmaceutical and academic partners, large and small, working on treatments and a cure for myotonic dystrophy will sit down with our community to share their progress and answer your questions.

Dyne Therapeutics will present released preclinical data demonstrating that Dyne’s FORCE™ platform achieved delivery to the brain in non-human primates and robust pharmacological effects in a model of myotonic dystrophy type 1 (DM1).

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Presented on June 9, 2023.

Current trial participants should view our short Clinical Trials Training Video to familiarize yourself with the clinical trials process and important do's and don'ts,

Presented on May 9th, 2023. Sarah Boyce, Avidity CEO, Dr. Steve Hughes, Avidity CMO, and Dr. Nicholas Johnson, MARINA Principal Investigator, present topline data from the MARINA Phase 1/2 clinical trial evaluating AOC 1001 for adults with myotonic dystrophy type 1 (DM1).

Presented on May 5th, 2023. Join Jane Larkindale, Stephen Babcock, Ashling Holland, and Jenny Shoskes, PharmD, from the PepGen team for a presentation on their myotonic dystrophy type 1 program.

Dr. Ashish Dugar, Chief Medical Affairs Officer at Dyne Therapeutics, presents on the ACHIEVE study and Dyne’s investigational medicine, DYNE-101. Q&A hosted by Molly White, Global Head of Patient Advocacy. Each month biotechnology, pharmaceutical and academic partners, large and small, working on treatments and a cure for myotonic dystrophy will sit down with our community to share their progress and answer your questions.

The Myotonic Dystrophy Foundation US made the following Research Fellowship grants in 2023:

Mackenzie Davenport, PhD
University of Florida, Gainesville, Florida, US

As the new Congress begins work on the fiscal year 2024 budget that includes important federal biomedical research funding, MDF advocates from across the country will be urging our U.S. Senators to include DM as an eligible research condition under the Peer Review Medical Research Program (PRMRP) for the 7th year in a row.

Cecilia Dupecher, Ph.D., Program Manager, Peer Reviewed Medical Research Program (PRMRP) at the U.S. Army’s Congressionally Directed Medical Research Programs (CDMRP) will be leads an informative webinar briefly explaining the program’s history and purpose followed by a discussion on how researchers can apply for $370 million in awards under PRMRP as part of the fiscal year 2023 review cycle.

The Myotonic Dystrophy Foundation US made the following grants in 2023:

2023 MDF Early Career Researchers

Dylan Farnsworth, PhD
Senior Research Scientist
The RNA Institute, University of Albany, New York, US

The Avidity Biosciences team presents, "MARINA Data: A Preliminary Assessment from the Phase 1/2 Clinical Trial for DM1" on December 16, 2022.

Presented on September 10, 2022.

Presented by Suzanne Perkins, PhD, Kim McPeek, Emily Jones, and Julie LeBoeuf

Hear from a panel of spouses and other caregivers about how they live their best life.

Presented on September 10, 2022.

Presented by Tom McPeek, Lorrie Gallagher, E. Kahlifa, and Elyse Posner

Hear from a panel of individuals with DM2 about how they live their best life.

Presented on September 10, 2022.

Presented by Mindy Kim, Bill Nuttall, Jeannine DeSoi, and Dean Sage

Hear from a panel of individuals with DM1 about how they live their best life.

Presented on September 10, 2022.

Presented by Suzanne McDermott, PhD, Nicholas Johnson, MD, and Jeffrey Statland, MD

Presented on September 9, 2022.

Presented by Laura Ranum, PhD and Eric Wang, PhD

Presented on September 9, 2022.

Presented by Andrew Berglund, PhD

First in our lineup of presentations on future directions in DM research, Dr. Berglund presents on screening and natural products.

Presented on September 9, 2022.

Presented by Thomas A. Cooper, MD, Mark Tarnopolsky, MD, PhD, FRCP(C), Elise Duchesne, PhD, Andrew Berglund, PhD, and Tina Duong MPT, PhD

Presented on September 9, 2022.

Presented by Melissa McIntyre, DPT of the University of Utah Health

Presented on September 9, 2022.

Presented by Samar Muslemani, OT, MSc of the University of Sherbrooke

Presented on September 9, 2022.

Presented by Thurman Wheeler, MD, of Massachusetts General Hospital

Presented on September 9, 2022.

Presented by Chamindra Konersman, MD

Presented on September 10, 2022.

Presented by Jacinda Sampson, MD of Stanford University and Kevin Brennan of Bluebird Strategies

Presented on September 9, 2022.

For those who have never attended an MDF Conference before, we invite you to join this special orientation and networking event to introduce you to the Conference, MDF, and the myotonic dystrophy community.

Presented on September 9, 2022. MDF leadership and Board of Directors are eager to share exciting updates about the state of the Foundation, International Myotonic Dystrophy Awareness Day, and the MDF strategic plan.

Presented on September 10, 2022.

Presented by Christopher Knauf, Esq.

Presented on September 10, 2022.

Representatives from biotech and pharma companies will provide updates on their drug development efforts in the DM field. Presenters include:

Representatives from biotech and pharma companies will provide updates on their drug development efforts in the DM field. Presenters include: Harmony Biosciences, Avidity Biosciences, Dyne Therapeutics, GrittGene Therapeutics & AMO Pharma Ltd.

Presented on August 5th, 2022. Join Alayna Tress, Dr. Michelle Mellion, Dr. Jaya Goyal, Holly Hand, and Dr. Jane Larkindale from the PepGen team for a presentation on their myotonic dystrophy type 1 program.

Presented on July 22nd, 2022. The Harmony Biosciences team presents on their ongoing clinical trial, "Safety and Efficacy of Pitolisant on Excessive Daytime Sleepiness and Other Non-Muscular Symptoms in Patients With Myotonic Dystrophy Type 1".

Do you have questions for DM doctors and therapists? Join a leading medical or research professional for an “Ask-the-Expert” session on DM & Palliative Care with Shauna Gibbons, MD, an Assistant Professor of Medicine in the Division of Palliative Medicine at the University of Kansas Medical Center.

Presented on July 1st, 2022. The Avidity Biosciences team presents on their AOC technology, the progress of their AOC 1001 program for DM, and the ongoing MARINATM trial.

Presented on June 17th.

Do you have questions for DM experts? Join Sarah Howe, MBA, of the Marigold Foundation for an “Ask-the-Expert” discussion, A Community Portrait through Surveys and Insurance Claims Data! 

Presented on June 3rd, 2022. Dr. Beatriz Llamusi Troisi and Dr. Judy Walker present on Arthex Biotech's lead investigational compound for myotonic dystrophy, ATX-01.

Do you have questions about brain-fog and the cognitive issues associated with DM1? Join DM expert Benjamin Gallais, PhD, of the The Center for the Study of Living Conditions and the Needs of the Population (ECOBES) for an “Ask-the-Expert” session on Key Neuropsychological Features of DM1.

Do you have questions about brain-fog and the cognitive issues associated with DM1? Join DM expert Benjamin Gallais, PhD, of the The Center for the Study of Living Conditions and the Needs of the Population (ECOBES) for an “Ask-the-Expert” session on Key Neuropsychological Features of DM1.

Join the Myotonic Dystrophy Foundation's National Advoccy Committee (NAC) for the first of several exciting webinars on how advocates can increase myotonic dystrophy (DM) awareness, grow DM research funding, and advance policies to accelerate the approval of drugs to treat and eventually cure DM.

Presented on April 1st, 2022. Dr. Ashish Dugar, SVP and Global Head of Medical Affairs at Dyne Therapeutics, will present an overview of Dyne’s DM1 candidate, DYNE-101, including preclinical data and plans for the upcoming clinical trial. Q&A hosted by Molly White, Vice President, Medical Communications & Advocacy.

Do you have questions for DM doctors and therapists? Join Johanna Hamel, MD, and Lindsay Baker, PT, of the University of Rochester for an “Ask-the-Expert” session on the DM2 & Managing Pain.

Originally presented on February 18th, 2022.

In partnership, the Myotonic Dystrophy Foundation US and the Myotonic Dystrophy Foundation UK made the following Research Fellowship grants in 2022.

Do you have questions for DM doctors and therapists? Join a panel of experts including Drs. Ami Mankodi, Aruna Subramanian, Robert J. Graham, and Oscar H. Mayer for an “Ask-the-Expert” session on COVID-19 & Vaccines. After the success of the Stump-the-Doctor session at the 2020 Virtual MDF Conference, MDF has created a series using the same format to connect families and DM experts.

Originally presented on September 11th, 2021 as a part of the Caregivers & Self-care Track at the 2021 Virtual MDF Annual Conference.

Originally presented on September 11th, 2021 as a main session at the 2021 Virtual MDF Annual Conference.

Originally presented on September 11th, 2021 as an Exercise & Movement session at the 2021 Virtual MDF Annual Conference.

Originally presented on September 11th, 2021 as a part of the Professionals Track at the 2021 Virtual MDF Annual Conference.

Originally presented on September 11th, 2021 as a part of the Professionals Track at the 2021 Virtual MDF Annual Conference.

Originally presented on September 11th, 2021 as a part of the DM1 & DM2 Tracks at the 2021 Virtual MDF Annual Conference.

Originally presented on September 11th, 2021 as a part of the Caregivers & Self-care Track at the 2021 Virtual MDF Annual Conference.

Originally presented on September 11th, 2021 as a main session at the 2021 Virtual MDF Annual Conference.

Originally presented on September 11th, 2021 as an Exercise & Movement Session at the 2021 Virtual MDF Annual Conference.

Originally performed on September 10th, 2021 as a main session at the 2021 Virtual MDF Annual Conference.

Originally presented on September 10th, 2021 as a part of the Caregivers & Self-care Track at the 2021 Virtual MDF Annual Conference.

Originally presented on September 10th, 2021 as a part of the DM2 Track at the 2021 Virtual MDF Annual Conference.

Originally presented on September 10th, 2021 as a part of the DM1 Track at the 2021 Virtual MDF Annual Conference.

Originally presented on September 10th, 2021 as a part of the Professional Track at the 2021 Virtual MDF Annual Conference.

Originally presented on September 10th, 2021 as a main session at the 2021 Virtual MDF Annual Conference.

Originally presented on September 10th, 2021 as an Exercise & Movement session at the 2021 Virtual MDF Annual Conference.

Originally presented on September 10th, 2021 as a part of the Professional Track at the 2021 Virtual MDF Annual Conference.

Originally presented on September 10th. 2021 as a part of the DM2 Track at the 2021 Virtual MDF Annual Conference.

Originally presented on September 10th, 2021 as a part of the DM1 Track at the 2021 Vitual MDF Annual Conference.

Originally presented on September 10th,2021 as a part of the Caregivers & Self-care Track at the 2021 Virtual MDF Annual Conference.

Welcome! MDF leadership and Board of Directors are eager to share exciting updates about the state of Foundation, International Myotonic Dystrophy Awareness Day, and the MDF strategic plan. Originally presented on Septebmer 10th, 2021 as a main session of the 2021 Virtual MDF Annual Conference.

Yoga teacher Basma Gale leads a session of breathing, stretching, and movement with adaptive instructions so that anyone may participate. Originally presented on September 10th, 2021 as a Exercise & Movement session during the 2021 Virtual MDF Annual Conference.

 

Originally presented on August 20th, 2021.

 

Originally presented on August 6th, 2021.

Do you have questions for DM doctors and therapists? Join Dr. Faisal Fecto, MD, PhD, from the Stanford University School of Medicine for an “Ask-the-Expert” session on myotonic dystrophy and the brain. After the success of the Stump-the-Doctor session at the 2020 Virtual MDF Conference, MDF has created a series using the same format to connect families and DM experts.

July 2021: Harmony Biosciences. Each month biotechnology, pharmaceutical and academic partners, large and small, working on treatments and a cure for myotonic dystrophy will sit down with our community to share their progress and answer your questions.

June 2021: ARTHEx biotech. Each month biotechnology, pharmaceutical and academic partners, large and small, working on treatments and a cure for myotonic dystrophy will sit down with our community to share their progress and answer your questions.

Meet Lupin Neurosciences! Each month biotechnology, pharmaceutical and academic partners, large and small, working on treatments and a cure for myotonic dystrophy will sit down with our community to share their progress and answer your questions.

Do you have questions for DM doctors and therapists? Join Pradeep P.A. Mammen, MD, FACC, FAHA, FHFSA of the UT Southwestern Medical Center for a “Ask-the-Expert” session on myotonic dystrophy and the heart. After the success of the Stump-the-Doctor session at the 2020 Virtual MDF Conference, MDF has created a series using the same format to connect families and DM experts.

Learn more about Biogen and Ionis Pharmaceuticals from Katherine Meilleur, PhD, PPCNP-BC, CCRP, the Principal Clinical Scientist of Research and Development in the Neuromuscular Development Unit at Biogen. Each month biotechnology, pharmaceutical and academic partners, large and small, working on treatments and a cure for myotonic dystrophy will sit down with our community to share their progress and answer your questions.

Do you have questions for DM doctors and therapists? Join Leila Neshatian, MD, MSc of Stanford University for a “Ask-the-Expert” session on the GI tract. After the success of the Stump-the-Doctor session at the 2020 Virtual MDF Conference, MDF has created a series using the same format to connect families and DM experts.

Learn more about Expansion Therapeutics from Renato Skerlj, PhD, Chief Executive Officer and .Matthew Disney, PhD, Scientific Founder. Each month biotechnology, pharmaceutical and academic partners, large and small, working on treatments and a cure for myotonic dystrophy will sit down with our community to share their progress and answer your questions.

Do you have questions for DM doctors and therapists? Join Valeria Sansone, MD, PhD of the NEuroMuscular Omnicentre (NEMO) for a “Ask-the-Expert” session on myotonic dystrophy and the respiratory system.

In August 2020, AMO Pharma published the results of a Phase 2 study utilizing AMO-02 (Tideglusib) for Childhood Onset DM1 in Pediatric Neurology. AMO Pharma is excited to announce they will be moving forward with the REACH-CDM Clinical Trial for AMO-02 after the US FDA and Health Canada approved their recently revised study protocols.

Do you have questions for DM doctors and therapists? Join Tina Duong, PT, PhD of Stanford University and Katy Eichinger, PT, PhD, DPT, NCS of the University of Rochester for a “Ask-the-Expert” session on exercise. After the success of the Stump-the-Doctor session at the 2020 Virtual MDF Conference, MDF has created a series using the same format to connect families and DM experts.

In partnership, the Myotonic Dystrophy Foundation US and the Myotonic Dystrophy Foundation UK made the following Research Fellowship grants in 2021.

As we embark on the new year, the Myotonic Dystrophy Foundation is preparing to launch an ambitious new advocacy agenda. We will begin our 2021 advocacy campaign by inviting the myotonic dystrophy community to join us on February 28th for Rare Disease Day.

Dyne’s Approach to Targeting DM1. Each month biotechnology, pharmaceutical and academic partners, large and small, working on treatments and a cure for myotonic dystrophy will sit down with our community to share their progress and answer your questions.

In partnership, the Myotonic Dystrophy Foundation US and the Myotonic Dystrophy Foundation UK made the following grants in 2015.

In partnership, the Myotonic Dystrophy Foundation US and the Myotonic Dystrophy Foundation UK made the following grants in 2016.

In partnership, the Myotonic Dystrophy Foundation US and the Myotonic Dystrophy Foundation UK made the following grants in 2017.

In partnership, the Myotonic Dystrophy Foundation US and the Myotonic Dystrophy Foundation UK made the following grants in 2018.

In partnership, the Myotonic Dystrophy Foundation US and the Myotonic Dystrophy Foundation UK made the following grants in 2019.

In partnership, the Myotonic Dystrophy Foundation US and the Myotonic Dystrophy Foundation UK made the following grants in 2020.

The following Research Fellowship grants were awarded in 2009.

The following Research Fellowship grants were awarded in 2010.

The following Research Fellowship grants were awarded in 2011.

The following Research Fellowship grants were awarded in 2012.

The following Research Fellowship grants were awarded in 2013.

The following Research Fellowship grants were awarded in 2014.

In partnership with the Myotonic Dystrophy Foundation US, the Myotonic Dystrophy Foundation UK made the following Research Fellowship grants in 2015.

In partnership with the Myotonic Dystrophy Foundation US, the Myotonic Dystrophy Foundation UK made the following Research Fellowship grants in 2016.

In partnership with the Myotonic Dystrophy Foundation US, the Myotonic Dystrophy Foundation UK made the following Research Fellowship grants in 2017.

In partnership with the Myotonic Dystrophy Foundation US, the Myotonic Dystrophy Foundation UK made the following Research Fellowship grants in 2018.

In partnership with the Myotonic Dystrophy Foundation US, the Myotonic Dystrophy Foundation UK made the following Research Fellowship grants in 2019.

In partnership, the Myotonic Dystrophy Foundation US and the Myotonic Dystrophy Foundation UK made the following Research Fellowship grants in 2020.

One of our most popular conference sessions, Strength Training, is becoming a 4-part series! Join Certified Strength and Conditioning Specialist, Rachel Kahn for a series of strength training classes designed for the myotonic dystrophy community.

One of our most popular conference sessions, Strength Training, is becoming a 4-part series! Join Certified Strength and Conditioning Specialist, Rachel Kahn for part 4 of a series of strength training classes designed for the myotonic dystrophy community.

One of our most popular conference sessions, Strength Training, is becoming a 4-part series! Join Certified Strength and Conditioning Specialist, Rachel Kahn for a series of strength training classes designed for the myotonic dystrophy community.

One of our most popular conference sessions, Strength Training, is becoming a 4-part series! Join Certified Strength and Conditioning Specialist, Rachel Kahn for a series of strength training classes designed for the myotonic dystrophy community.

Welcome to our first Virtual MDF Conference! Learn more about the Foundation's recent impact and current projects.

An overview of the basics of DM for the newly diagnosed and those who might appreciate a refresher on DM. This session reviews the genetics of the different types of DM as well as anticipation, the many body systems affected by this disease, what is common/not, anesthesia precautions, cognitive and neuropsychiatric effects, expectations, preparedness, and more.

In this presentation you will learn about many of the key scientific discoveries that have allowed researchers, clinicians and the biotechnology and pharmaceutical industries to develop therapeutic strategies for myotonic dystrophy. You will learn about the identification of the mutations in the genes that cause DM1 and DM2 and how understanding the mechanism through which these mutations cause DM. You will learn how the mutations can change over time in a person and why individuals with DM have such a wide range of symptoms. This foundation of DM knowledge has provided researchers with diverse ways to approach DM therapies and treatments.

This session explores the basics of nutrition and optimal nutrition for myotonic dystrophy. The discussion covers one of the most requested topics, dietary supplements, as well as energy optimization, weight gain/loss, and more.

Join community member Ellen Shapiro for a gentle chair yoga session. This session covers breath awareness, stretching, and mindful movements. Yoga helps to calm us and build flexibility and strength. If you are experiencing anxiety during these unusual times, this might be a nice relaxing session for you! No yoga experience or equipment necessary!

This session explores the many symptoms of DM as well symptom management strategies/techniques. We discuss alleviation of symptoms including fatigue and daytime sleepiness, treatments for systemic issues, quality of life, prevention, medications, and more.

There are more efforts now than ever in the biotechnology and pharmaceutical industries to bring medicines to our community. This presentation outlines various approaches that are under development to treat myotonic dystrophy. You will learn about strategies being taken and progress that has been made in the recent past. You will also learn about potential hurdles that stand in the way of delivering effective therapeutics to DM patients, and how scientists and drug developers are working to overcome these hurdles.

 

This session provides an overview of gastrointestinal health as it relates to myotonic dystrophy, including diagnostic testing, treatment options, and therapies. Dr. Neshatian is introduced by DM Facebook Moderator Bill Nuttall.

Representatives from biotech and pharma companies will provide updates on their drug development efforts in the DM field: Avidity Biosciences, Ionis Pharmaceuticals, Dyne Therapeutics, and NeuBase Therapeutics.

This class begins with a warm-up including a body scan, breath work, active-stretching, and joint/spinal mobility work. The intensity builds as we layer on full-body strength training with functional, task-oriented movements, and some balance and coordination exercises. We wrap up with some grounding movements to calm your nervous system and send you on your way! This class can be performed seated or standing. Equipment is not required but the following equipment is optional - dumbbells (or soup cans), a resistance band (or household towel).

The MDF 2020 Virtual Conference kicked off day two with inspirational stories from the community. This presentation included voices from the community sharing what MDF means the them, the Kayla Vittek Memorial Award presented by Lisa Harvey-Duren, and a special presentation from DM2 community member Rob Besecker, MBA!

You asked, she answered! Get answers to some of the most commonly asked questions about myotonic dystrophy, including questions submitted through the conference registration process.

 

Learn about the current developments in DM2 research. Moderated by Dr. Johanna Hamel of University of Rochester. Panelists will include Dr. Paloma Gonzalez-Perez of the Massachusetts General Hospital, and MDF Research Fellows Dr. Raphael Benhamou of Scripps Research Institute and Dr. Jana Jenquin of University of Florida.

Advocating for myotonic dystrophy research, resources, and inclusion. Through this panel discussion you will: 1. Learn about the past, present and future of MDF’s research advocacy plans and how you can help increase federal funding for DM research. 2. Get an insider perspective from a congressional staff person on what works and doesn’t work when you lobby Congress for increased research funding and other health care priorities. 3. Understand from a DM consumer reviewer how federal agencies like the Department of Defense PRMRP allocate research funds to award grants to fund DM research.

 

This session explores the challenges caregivers face, particularly during COVID-19 pandemic, as well as best practices and realistic ways to help manage stress to support your own well-being.

With many potential drugs and treatments in development, this session explores the different stages of the clinical trials process, how COVID-19 has impacted the research process as well as the FDA review/approval process, how the different therapeutic approaches might be administered, as well as how people living with myotonic dystrophy can prepare now to be ready to participate in trials in the future.

This session discusses the differences in anxiety and depression among those living with rare diseases, looks closely at the recent study exploring the impact of COVID-19 on the quality of life of the DM community, and identifies successful coping and resilience strategies found among people with rare disease, especially during times of isolation and social distance.

Representatives from biotech and pharma companies provide updates on their drug development efforts in the DM field, including companies new to the MDF Annual Conference. his session includes presentations by Syros Pharmaceuticals, AMO Pharma, and Harmony Biosciences.

 

Learn about the different resources that have been created for the Myotonic Dystrophy community! This presentation provides an introduction to help familiarize you with the resources and support options available for families affected by myotonic dystrophy.

If your health plan denies you coverage or refuses to pay a claim, you have the right to appeal that decision or have it reviewed by a third party. If your appeal is accepted, you can be reimbursed by your insurance company for the services that they failed to cover.

The first-line of decision making about a health plan’s coverage is typically made by a utilization review manager/case manager. If your provider prescribes you a service for DM, this utilization review manager will conduct a utilization review before your insurance company can approve coverage.

People with DM are often denied coverage for medications and services that are not listed in their insurance formularies. Because DM is a rare disease, insurance companies are often not aware of the symptom management strategies that are medically necessary for people living with DM.

There are two main categories of health insurance - private and public.

Some of the most common questions received by Myotonic involve issues with health insurance coverage for people living with myotonic dystrophy (DM).

Join Ellen Shapiro for a gentle chair yoga session including breath awareness, stretching, and mindful movements. Yoga helps to calm us and build flexibility and strength. No yoga experience or equipment necessary!

Feeling stressed or just need a break? This 20 minute mindfulness session will help you take a pause, focus on your breathing and become more mindful.

It is important to understand how CTG repeat length is associated with the severity of myotonic dystrophy type 1. CTG is the type of trinucleotide repeat expansion found on the DPMK gene inherited by individuals with DM1.

Late onset. Diagnosis later in life, typically after age 50.

Dr. W. David Arnold, a researcher and practicing doctor at the Ohio State University, presents an overview of myotonic dystrophy.

Learn more about the patterns, symptoms, diagnosis and treatments available for Skin problems in CDM.

Learn more about the patterns, symptoms, diagnosis and treatments available for Skin problems in DM2.

Learn more about the patterns, symptoms, diagnosis and treatments available for Skin problems in DM1.

Learn more about the patterns, symptoms, diagnosis and treatments available for Gastrointestinal System problems in CDM.

Learn more about the patterns, symptoms, diagnosis and treatments available for Gastrointestinal System problems in DM2.

Learn more about the patterns, symptoms, diagnosis and treatments available for Gastrointestinal System problems in DM1.

Learn more about the patterns, symptoms, diagnosis and treatments available for Cardiovascular System problems in CDM.

Learn more about the patterns, symptoms, diagnosis and treatments available for Cardiovascular System problems in DM2.

Learn more about the patterns, symptoms, diagnosis and treatments available for Cardiovascular System problems in DM1.

Learn more about the patterns, symptoms, diagnosis and treatments available for Genetic problems in CDM.

Learn more about the patterns, symptoms, diagnosis and treatments available for Genetic problems in DM2.

Learn more about the patterns, symptoms, diagnosis and treatments available for Genetic problems in DM1.

Learn more about the patterns, symptoms, diagnosis and treatments available for Vision problems in CDM.

Learn more about the patterns, symptoms, diagnosis and treatments available for Vision problems in DM2.

Learn more about the patterns, symptoms, diagnosis and treatments available for Vision problems in DM1.

Learn more about the patterns, symptoms, diagnosis and treatments available for Muscle problems in CDM.

Learn more about the patterns, symptoms, diagnosis and treatments available for Muscle problems in DM2.

Learn more about the patterns, symptoms, diagnosis and treatments available for Muscle problems in DM1.

Learn more about the patterns, symptoms, diagnosis and treatments available for Reproductive System problems in CDM.

Learn more about the patterns, symptoms, diagnosis and treatments available for Reproductive System problems in DM2.

Learn more about the patterns, symptoms, diagnosis and treatments available for Reproductive System problems in DM1.

Learn more about the patterns, symptoms, diagnosis and treatments available for Endocrine System problems in CDM.

Learn more about the patterns, symptoms, diagnosis and treatments available for Endocrine System problems in DM2.

Learn more about the patterns, symptoms, diagnosis and treatments available for Endocrine System problems in DM1.

Learn more about the patterns, symptoms, diagnosis and treatments available for Respiratory System problems in CDM.

Learn more about the patterns, symptoms, diagnosis and treatments available for Respiratory System problems in DM2.

Learn more about the patterns, symptoms, diagnosis and treatments available for Respiratory System problems in DM1.

Learn more about the patterns, symptoms, diagnosis and treatments available for Central Nervous System problems in CDM.

Learn more about the patterns, symptoms, diagnosis and treatments available for Central Nervous System problems in DM2.

Learn more about the patterns, symptoms, diagnosis and treatments available for Central Nervous System problems in DM1.

Representatives from biotech and pharma companies will provide updates on their drug development efforts in the DM field, including companies new to the Myotonic Annual Conference. The industry updates are followed by the Q&A session where questions submitted throughout the conference ar

Heart Health: Understanding DM Cardiac Symptoms with Saman Nazarian, MD, PhD

This session explains how myotonic dystrophy may impact your heart and provides an overview of the cardiac electrical system, common symptoms associated with conduction problems, and preventative measures.

Exercise, Nutrition & Speech with Katy Eichinger, PhD, DPT, Leslie Vnenchak, MA, CCC-SLP, and Robin Meyers, RD, MPH, LDN

This rehabilitation panel reviews current research and strategies for managing DM symptoms through exercise, speech and nutrition.

Financial Planning & DM with Pat Bergmaier, CFP®, ChSNC

This session reviews financial planning including government benefits, special needs trusts and wills, social security, and more.

Family members, caregivers and researchers describe their experiences living with myotonic dystrophy and research advances creating hope for the future.

Join Certified Genetic Counselor Tiffany Grider from the University of Iowa for an recorded webinar on genetic testing.

A webinary presentation on "Facilitating Social Interaction In Myotonic Dystrophy" by Melissa M. Dixon, PhD, MS from the University of Utah.

Award-winning recording artist & Myotonic community member Eric Hutchinson released the song "Hands" on his new album "Modern Happiness" in partnership with Myotonic! Eric developed the song & video to share his family story & help raise awareness about DM & critically-needed funds for the Myotonic. Directed by Doug Thomsen and Adam Behrmann.

Laurence Mignon, PhD, IONIS Pharmaceuticals provides an update on their drug development efforts in the DM field, 

Myotonic is asking our community members to help educate their doctors about the care recommendations, and we'll show you how. Watch DM doctors and community members act out entertaining skits that will explain what to say to your doctors during your doctors visits. These skits will include a twist: affected community members will be the doctors and doctors are patients in these hilarious educational vignettes.

This interactive panel session was presented in a similar format to the Patient-Focused Drug Development meeting presented by MDF as a part of the 2016 MDF Annual Conference, and the CNS Endpoint Development discussion presented at the 2017 MDF Annual Conference.

Joseph P. Horrigan, MD, from AMO Pharma Ltd. provides an update on their drug development efforts in the DM field. 

Representatives from biotech and pharma companies will provide updates on their drug development efforts in the DM field. Matthew Disney, PhD, Expansion Therapeutics

Ranjan Batra, PhD, Locana, provides an update on their drug development efforts in the DM field. 

Current strategies for managing disease progression and maintaining quality of life, including the latest in tools and resources with Cynthia Gagnon, OT, PhD, Université de Sherbrooke

Dr. Elizabeth Ackermann reports on the results of the 3-year MDF and Wyck Foundation-funded drug development acceleration effort, MDF 3.0, and introduces MDF’s new initiative, MDF 4.0, including the $1M gene editing project, the Myotonic Dystrophy Clinical Research Network study and other aggressive therapy development programs.

Current strategies for managing disease progression and maintaining quality of life, including the latest in tools and resources with Missy Dixon, PhD, University of Utah.

Myotonic community members speak about the impact that living with DM has on their lives.

MDF created a short video to recognize and celebrate Moxley’s incredible commitment and impact on the treatment of myotonic dystrophy and scientific discovery to drive disease understanding and therapy development. “Mox” is in many ways irreplaceable, functioning as a singular force in the myotonic dystrophy field for over four decades.

In 2017, MDF finally achieved one of its goals for the community when congenital myotonic dystrophy was added to the Compassionate Allowance Program for Social Security Disability. Join us for an informational webinar with SSA representative Deborah Dennis, who will explain how this new development affects the DM community and what will change in the application process going forward.

2018 Research News.

2017 Research News.

2016 Research News.

2015 Research News.

Video #2 from the session: Bringing the Patient Voice to CNS Targeting Drug Development in DM. Dr. Gersham Dent, a neuroscientist working on the DM1 drug development program at Biogen, provides observations on panelists' CNS symptom experiences with regard to possible endpoint identification for future clinical trials of CNS-targeting therapies. From the 2017 MDF Annual Conference.

MDF community members reported on the impact of myotonic dystrophy on the brain from their individual perspectives as people living with DM1, DM2 and as caregivers. Additional insights and comments were provided by members of the conference audience. The session input will be published and used to help drug developers understand the impact of DM on the brain from the patient perspective, and begin to identify clinical trial endpoints. From the 2017 MDF Annual Conference.

Darcy Trill, RDHAP, mobile dental hygenist who specializes in the treatment of people with disabilities and special needs in their homes, provides a compelling overview of the risks of ignoring dental health for DM patients, and strategies for achieving and maintaining oral health.

Dr. Melissa Dixon of the University of Utah discusses mental health challenges and symptoms sometimes experienced by people living with DM, and strategies for coping with everything from depression to anxiety and 'brain fog' From the 2017 MDF Annual Conference.

Dr. John Day of Stanford University presents an overview of brain-related DM impacts that can affect sleep, and current thinking regarding strategies to manage this very prevalent DM symptom. From the 2017 MDF Annual Conference.

Dr. Jacinda Sampson, joined by Dr. Ian Bowler, presents on the complications experienced by people living with myotonic dystrophy when they are subjected to anesthesia and, as importantly, other pain medications that can create similar complications and risks. This is critically important information for every DM family member and attending clinician to know. From the 2017 MDF Annual Conference.

A special tribute to Jeremy and Erica Kelly of Myotonic.

On Monday, November 7, 2016, Myotonic hosted the webinar "Living Long, Living Well: A Current Approach to Palliative Care," with Dr. Anne Broderick and Dr. Laurie Gutmann.

Watch "DM Heroes", a moving short film about a few heroes in the myotonic dystrophy community.

Watch Patient-Focused Drug Development Meeting, Part 2, a video from the 2016 Myotonic Annual Conference.

Watch Patient-Focused Drug Development Meeting, Part 1, a video from the 2016 Myotonic Annual Conference.

Watch DM and the Brain, a video from the 2016 MDF Annual Conference.

Watch Occupational Therapy, a video from the 2016 Myotonic Annual Conference.

Watch Family Planning, a video from the 2016 MDF Annual Conference.

Watch Transitioning to Adulthood, a video from the 2016 Myotonic Annual Conference.

Watch Pulmonary Considerations, a video from the 2016 MDF Annual Conference.

Watch Applying for Disability Benefits, a video from the 2016 MDF Annual Conference.

Links to presentations for sessions and meetings included in the 2016 Myotonic Annual Conference Professionals Track are provided below, when available.

The 2016 Myotonic Annual Conference Community Track included the following sessions below. You'll find links for the presentations and videos from those sessions linked below if they are available.

A webinar on meditation hosted by Dr. Genie Palmer, a former associate professor and researcher at Sofia University.

www.bridgingapps.org - a program and website of Easter Seals Greater Houston that provides resources, education, and information on apps and mobile devices to help people with disabilities target and improve skills and reach their highest

To find out more information about art therapy, or to find a referral to an art therapist near you, check out www.arttherapy.org locate your local art therapy chapter and request an art therapy referral.

The following organizations help promote, certify and regulate Acupuncture and Asian Medicine in the United States. A prospective patient can visit the websites to further research acupuncture as well as find a practitioner in their area.

Community members discuss daily living strategies for motivating their adult children living with juvenile-onset DM1.

Community members Penni Warford, Sarah Clarke and Ann Spaulding discuss best practices for planning and implementing your child's Individualized Education Plan.

Dr. Craig Campbell, MD, of Western University in Ontario, Canada, has a discussion with audience members about congenital DM.

A panel of physical therapy professionals and people living with DM discuss ways to stay physically fit.

If you are a newcomer to the Myotonic community, you may be a little overwhelmed by the wealth of materials and information that you're presented with at the 2015 Myotonic Annual Conference.

July 2016

April 2016

  • 68th American Academy of Neurologists Meeting. Apr. 15-21, Vancouver, B.C. Abstract submission will open in early September 2015.
  • Global Orphan Drug Conference and Expo. Apr. 20-22, Washington, D.C.

U.S. Department of Education: A Guide to the Individualized Education Program: http://www2.ed.gov/parents/needs/speced/iepguide/index.html#introduction

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Washington State Father’s Network:

What are clinical trials?

This trial has produced a lot of interest and excitement. It is important to realize, however, that just because an investigational compound is “tailor made” doesn’t mean that it will be safe or even effective; the purpose of a clinical trial is to find that out.

The Food and Drug Administration has issued a call for information about biomarkers in development.

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Thursday, September 17: Pre-Conference Activities

3:00 - 7:00 PM

In this webinar, Kari Lane, RD, CNSC, Clinical Dietitian at the University of Utah, discusses nutritious diets to maintain heart and GI health for people living with myotonic dystrophy.

MDF presents a training video for clinical trials participants, presented by Dr. Bruce Wentworth of Genzyme, and Jeanne Dekdebrun and Elizabeth Luebbe of the University of Rochester.

Deborah Miller and Salina Prasad of the US Food & Drug Administration provide an overview of the agency and discuss patient advocacy as it relates to the FDA.

Myotonic has been working with partners in other rare disease organizations, Congress, and biotech/pharma in order to improve the regulatory review and drug approval processes in the US.

Isis Pharmaceuticals Initiates Phase 1/2 Study of ISIS-DMPK Rx in Patients with Myotonic Dystrophy Type 1

MDF Recognizes Rare Disease Month by Unveiling Hope and Inspiration Video

Isis has completed a Phase 1 study evaluating the safety of ISIS-DMPKRx in healthy volunteers. In this study, ISIS-DMPKRx was well tolerated at all dose levels tested with no safety or tolerability concerns. The compound was delivered by a subcutaneous injection.

Community-led session presented by Regina Thompson and Jessica Nussbaum. Two caregivers discuss different ways of preparing food for those with dysphagia.

Community-led session led by Sarah Berman, Erica Kelly, and Catherine Wycoff, DPT, GCFP, ABMCP. Parents of children living with DM and a hippotherapy specialist discuss the benefit that this type of therapy can often have.

Community-led session led by Elizabeth Florence and Loraine Dressler. This presentation discusses best practices for traveling with those living with DM.

Cynthia Gagnon, PhD, OT, of the Université de Sherbrooke, discusses ways to modify daily living activities to best benefit those living with DM.

Cynthia Gagnon, PhD, OT, of the Université de Sherbrooke, discusses ways to modify daily living activities to best benefit those living with DM.

Todd Goodglick, MD, of Washington Eye Physicians, discusses common ophthalmological issues resulting from myotonic dystrophy and what can be done to address these symptoms.

Linda Nguyen, MD, of Stanford University, discusses GI health as it relates to myotonic dystrophy, and ways to combat these symptoms.

Multi-Disease Organizations

You may view past webinars at any time on the Myotonic Digital Academy.

You need access to a high-speed Internet-connected computer with either the ability to play audio or use of a separate telephone line. Webinars include a slide presentation and/or live streaming video and audio.

System requirements for attending a session include:

Here's what you'll need to do to attend our webinars live:

Myotonic dystrophy is associated with a modest reduction in the amount of immunoglobulin in the blood (hypogammaglobulinemia). The production of antibodies is normal, however the antibodies do not last as long in the circulation, hence the amount in the blood at any time is somewhat reduced.

Annual Ophthalmological Examination

Annual eye examinations should be done on every DM1 and DM2 patient to assess above-described eye problems.

Dr. Chad Ruoff of the Stanford Center for Sleep Science and Medicine discusses common sleep issues associated with myotonic dystrophy, and ways to manage these symptoms.

Dr. Darren Monckton explains the current research concerning the significance of CTG repeats for persons with DM1.

Myotonic reserves the right to delete, modify, or supplement the content herein at any time for any reason without liability or notification to anyone.

Any closed Facebook groups, forums or membership sections associated with the Myotonic website or the Myotonic Blog are for the use of people affected by DM and their families, and are maintained as semi-restricted forums.

Information published on this site and opinions offered by individuals on this blog and other linked sites are provided for educational and informational purposes only.

When used in this agreement, the term "Copyright" shall be understood to mean any and all rights that protect original works of authorship fixed in any tangible medium of expression, now known or later developed, from which they can be perceived, reproduced, or otherwise communicated, either dire

Myotonic is a charitable organization pursuant to a tax exemption granted under §501(c)(3) of the United States Internal Revenue Code.

You don’t have to use these exact scripts, but please do try to include your name, city and state and the phrase "re-authorize the MD-CARE Act" or “oppose the repeal of the Orphan Drug Tax Credit” 

Introduction:  

  1. Download: download the SpeakingPhoto app (it’s free!) to your tablet or smartphone.
  2. Open and Shoot: open SpeakingPhoto and select SHOOT to take a new picture (or SPEAK to use one from your camera roll). 

Download this letter and edit the red text before copying and pasting the text into an email.

First introduced as part of the Internal Revenue Code of 1986, the Orphan Drug Tax Credit has allowed drug manufacturers to claim a tax credit of 50% of certain research costs for orphan drugs (drugs for diseases affecting 200,000 Americans or fewer).

For more information on the 21st Century Cures Act, please visit the advocacy page on the Myotonic website.

The following is a brief description of the two chambers of Congress and what their functions are:

The barrage of government and procedural jargon is often confusing and off-putting for new advocates. This glossary is designed to help you learn some of the more commonly-used terms in the lawmaking process.

The Find a Doctor tool is a collection of practitioners that DM patients have seen for their condition.

Grassroots advocacy is citizen participation in government. The key to successful advocacy is assembling people who share common goals and concerns. Advocacy is all about educating legislators about the opinions and views of their voting constituents.

As part of our 2014 commitment to grow and deepen our advocacy program and incorporate grassroots advocacy in our efforts, MDF will feature our first-ever advocacy track at the MDF Annual Conference, which will be held this year in Washington, DC, on September 12-13, 2014.

Learn how to find the local district offices for your members of Congress, as well as how to begin a dialogue with them that will help educate them about myotonic dystrophy! Watch a video of the training here.

A variety of organizations exist in the United States and around the world to support people living with myotonic dystrophy. For more information and links to organizations in your area, click here.

Myotonic Dystrophy – Present Management, Future Therapy, edited by Prof. Peter Harper, published by Oxford University Press, 2004. A 240-page book written by DM experts from around the world, geared to medical professionals.

Click here to visit Myotonic Dystrophy Family Registry website, learn more and sign up.

Your participation is voluntary and your individual information will be kept completely confidential.  You can opt out of the Registry at any time and all of the data you provide will be entirely de-identified (anonymous).

Because you will have access to de-identified information in the Registry, you can learn more about DM, how it's experienced by other community members, and what the broader community looks like. This includes:

By joining the Myotonic Dystrophy Family Registry, you will aid researchers, pharmaceutical companies and other professionals seeking to:

...Are there any additional risks for an affected woman during pregnancy? Are there any precautions she should take if she becomes pregnant?

What is the relationship between sleep apnea and DM? Modafinil is the choice although it is expensive. Sleep apnea contributes to the daytime somnolence but patients often continue to have daytime sleepiness after CPAP.

...And is there information on rate of successful pregnancy when the woman does not have DM?

...Recognizing that exercise does not prevent the progression of muscle weakness in DM, are there exercise regimens that are recommended to try and maintain what muscle strength is present?

...What emergency interventions should be followed? Does chewing food a lot help food go down easily? Does drinking lots of liquids with a meal help? Any particular type of liquid?

...Are these related to the following: a) digestion, b) type of food eaten, c) muscles not working properly? How can these problems be treated?

...How should a DM patient be followed from a cardiac standpoint (e.g. EKGs, echos, etc.)? 

Note: An example of a serious cardiac problem would include a very rapid or very slow heartbeat, or arrhythmia (irregular heartbeat).

Perioperative complication is increased in patients with DM.  All drugs, including sedatives, induction drugs, anesthetics, neuromuscular junction blockers and opiates must be carefully chosen, and doses must be carefully determined. In particular, anticholiesterases (e.g.

For information on how DM affects executive function, see the Body Systems Tool.

...Is it larger with maternal transmissions? Or is there an identical distribution between men and women?

Not always. Their genetic background is different although many genes are shared. The genomic background is likely to play an important role in organ-specific phenotype expression.

No treatments currently exist that slow the progression of myotonic dystrophy, but symptomatic treatments are available. Managing the symptoms of this disease can reduce suffering and improve quality of life for patients.

Myotonic dystrophy is a progressive or degenerative disease. Symptoms tend to worsen gradually over several decades. While no treatment exists that slows the progression of myotonic dystrophy, management of its symptoms can greatly improve patient quality of life.

A complete diagnostic evaluation, which includes family history, physical examination, and medical tests, is typically required for a presumptive diagnosis of myotonic dystrophy.

Myotonic dystrophy is an inherited disease where a change, called a mutation, has occurred in a gene required for normal muscle function. The mutation prevents the gene from carrying out its function properly.

There are two well-defined types of the disease (DM1 and DM2) which have distinct but overlapping symptoms.

Muscular dystrophy (MD) refers to a group of nine genetic diseases that cause progressive weakness and degeneration of muscles used during voluntary movement.  Myotonic dystrophy (DM) is one of the muscular dystrophies.

  • Myotonic muscular dystrophy - often abbreviated as MMD
  • Dystrophia myotonica - a Latin name used by many doctors; often abbreviated as DM. The different types of DM are typically referred to as DM1 or DM2.

Myotonic dystrophy (DM) is a multi-systemic inherited disease that affects at least 1 in 2,100 people or over 150,000 individuals in the US alone (Johnson 2021).

ZNF9. The mutated gene on chromosome 3 that causes DM2; sometimes called the zinc finger gene.

Tachyarrhythmia. Very rapid heart beats.

Talipes equinovarus. An inversion of the foot in which only the outer side of the sole touches the ground; also called club foot.

Section 504. Individuals with disabilities may not be excluded from participating in programs and services receiving federal funds. It also prohibits job discrimination against people with disabilities in any program receiving federal financial assistance.

Respiratory function test. A test that measures the amount of air a person can blow out.

PCR - polymerase chain reaction. A procedure that produces millions of copies of a short segment of DNA; the amplified product, doubled each cycle for 30 more cycles, can then be subjected to further testing; it is a common procedure in molecular genetic testing in orde

Opiates. Any preparation or derivative of opium.

Oro. Referring to the mouth.

Newborn screening. Public health program of screening in infants shortly after birth for conditions that are not clinically evident in the newborn period.

NICU. Neonatal (new born) intensive care unit.

Mexiletine. A drug used to treat myotonia (delayed muscle relaxation after contraction) in muscle diseases such as myotonic dystrophy and myotonia congenital (brand name is Mexitil).

Implanted Cardioconverter Defibrillator (ICD). A cardiac device implanted in the chest; a combination pace-maker and defibrillator designed to regulate the heart beat, to keep it from beating too fast or too slow.

Haplotype analylsis. Molecular genetic testing to identify a set of closely linked segments of DNA.

Gait. Manner of walking.

Gastroenterologist. A doctor focusing on the function and disorders of the stomach, intestines and assorted organs that are often referred to as the GI tract.

Foot drop. Partial or total inability to dorsiflex (turn upward) the foot.

Formulary. A list of prescription drugs covered by a prescription drug plan or another insurance plan offering prescription drug benefits. Also called a drug list.

Ectopic. Occuring in the wrong place in the body, such as the development of an impregnated egg outside the cavity of the uterus; or, a cardiac beat originating elsewhere other than at the sinoatrial node.

Deductible. The amount you pay for covered healthcare services before your insurance plan starts to pay. With a $2,000 deductible for example, you pay the first $2,000 of covered services yourself.

Cataracts. A film that can form in the eye and cause complete or partial opacity of the ocular lens, or blurry vision; in myotonic dystrophy patients, often posterior subcapsular iridescent cataracts form; they are sometimes referred to as Christmas-tree cataracts.

Barium swallow test. A test in which a patient swallows a thick white substance and the swallowing process is filmed to detect possible abnormalities.

Blepheroplasty. Any operation for the correction of a defect in the eyelids.

Accommodations. Supports that are provided to a child throughout the school day that do not significantly alter what is being taught or how the child participates in school activities.

In patients with myotonic dystrophy, there is a problem with a particular gene that causes it to convey faulty instructions. This mistake results in the symptoms of DM. The two forms of myotonic dystrophy are caused by mutations in different genes.

DNA is the genetic material found in the nucleus of nearly every cell. A gene is a stretch of DNA that carries a set of instructions on how a protein should be made. These proteins carry out the functions of the body. Scientists estimate that humans have about 25,000 different genes.

Both DM1 and DM2 are passed from parent to child by autosomal dominant mutations. This means that the faulty gene is located on one of the chromosomes that does not determine sex (autosome) and that one copy of the mutated gene is enough to cause the disease (dominant).

Both DM1 and DM2 are passed from parent to child by autosomal dominant mutations. This means that the faulty gene is located on one of the chromosomes that does not determine sex (autosome) and that one copy of the mutated gene is enough to cause the disease (dominant).

Studies have been done to understand how these non-coding mutations could have a trans-dominant effect (i.e. how they could affect other genes not associated with the mutation locus). This research suggests a gain-of-function RNA mechanism underlies the clinical features common to both diseases.

Myotonic dystrophy is one of the most complex disorders known. In addition to the incredible variability of clinical symptoms, the disease also has unique mechanistic features:

Myotonic dystrophy is one of the most complex disorders known. In addition to the incredible variability of clinical symptoms, the disease also has several unique mechanistic features:

Additional forms (DM3 and DM4) have been suggested, as a small number of individuals have been seen who have the characteristics symptoms of myotonic dystrophy, but who do not have the genetic mutations which cause these disorders.

Myotonic dystrophy type 2, also known as proximal myotonic myopathy (PROMM), is a milder form of myotonic dystrophy in which transient muscle pain is the most common complaint. Only adult-onset forms of DM2 have been recognized.

DM1 (also known as Steinert's disease) is the most prevalent form of the condition and generally the most severe.

Myotonic dystrophy is a progressive or degenerative disease. Symptoms tend to worsen gradually over several decades. While no treatment exists that slows the progression of myotonic dystrophy, management of its symptoms can greatly improve patient quality of life.

  1. If you haven't already done so, register to vote to make your voice heard on important issues!

Enter your ZIP code to determine which Congressional District you live in, and to find contact information for your members of Congress.

Read about the issues that are the most important to the DM community! In 2015, we are advocating for improvement in the regulatory review process, largely focusing on the 21st Century Cures Initiative.

Myotonic regularly presents advocacy webinars explaining our current issues and campaigns, and provides advocacy trainings at our annual conference.

 

A great way to familiarize your members of Congress with DM and your family's story is to give them a packet of information. To find your member of Congress' district office locations, please refer to the House of Represent

It will only take a minute, but it can mean so much to those living with DM!

Dr. William Groh, MD, of the Crannert Institute of Cardiology at Indiana University, explains how DM may impact your heart, and gives an overview of the cardiac electrical system, common symptoms associated with conduction problems, and preventative measures.

Dr. Matt Disney and Dr. John Day provide an overview of the DM2 disease mechanism and describe how compounds can be designed as potential therapies for this disease.

This webinar is presented by a group of mothers offering their knowledge and experience raising children with congenital DM. This webinar includes informed, practical suggestions from alleviating gastro-intestinal challenges with proper diet and natural supplements to advocating for your child's Individualized Education Program (IEP).

Pat Furlong, CEO of Parent Project Muscular Dystrophy, will share the experiences of Duchenne community members who have participated in clinical trials.

Dr. Doug Kerr, M.D., Ph.D., of Biogen-Idec, describes the U.S. process for taking a drug from testing to approval.

This webinar addresses issues related to caregiver advocacy – partnering with the healthcare team and other family members – as well as self-care and managing the role of a caregiver. 

This webinar discusses various pharmocological and non-pharmacological treatments for muscle, chest, and abdominal pain often experienced by persons with DM1 or DM2.

Many people who are affected by myotonic dystrophy (DM) find it difficult to disclose their condition to those closest to them.

A discussion of the signs and symptoms of dysphagia, a swallowing disorder, as well as the different muscles that can be affected by this DM symptom.

As the inaugural presentation in our Living with DM Webinar series, we discuss the decline of executive function in the CNS due to myotonic dystrophy, as well as strategies for managing this symptom, and an update on current CNS research.

People living with myotonic dystrophy have a frank discussion about the biggest challenges facing their lives.

Dr. Jacinda Sampson describes strategies for ensuring a successful visit to your medical professional.

Dr. Darren Monckton describes anticipation, the process by which the disease increases in severity as it is passed from generation to generation, a unique feature of myotonic dystrophy.

Dr. Jacinda Sampson describes the importance of, and strategies for, creating a medical team for myotonic dystrophy care.

Dr. Darren Monckton describes anticipation in myotonic dystrophy, the process by which the disease increases in severity as it is passed from generation to generation.

A father and son living with myotonic dystrophy type 2 describe the unique pain they experience with this disease.

An MDF community member and mother describes the medical team she has assembled for her daughter, Kate.